BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 2748475)

  • 1. The syndrome page. X-linked dominant chondrodysplasia punctata (Conradi-Hünermann syndrome).
    Krafchik BR
    Pediatr Dermatol; 1989 Jun; 6(2):150-1. PubMed ID: 2748475
    [No Abstract]   [Full Text] [Related]  

  • 2. What syndrome is this? X-linked dominant chondrodysplasia punctata (Happle).
    Jacyk WK
    Pediatr Dermatol; 2001; 18(5):442-4. PubMed ID: 11737694
    [No Abstract]   [Full Text] [Related]  

  • 3. Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hünermann-Happle syndrome.
    Lindenthal B; Repgen R; Emons D; Lentze MJ; von Bergmann K; Lütjohann D
    Klin Padiatr; 2004; 216(2):67-9. PubMed ID: 15106076
    [TBL] [Abstract][Full Text] [Related]  

  • 4. X-linked dominant chondrodysplasia punctata. Review of literature and report of a case.
    Happle R
    Hum Genet; 1979; 53(1):65-73. PubMed ID: 535904
    [TBL] [Abstract][Full Text] [Related]  

  • 5. X-linked dominant Conradi-Hünermann syndrome presenting as congenital erythroderma.
    Kalter DC; Atherton DJ; Clayton PT
    J Am Acad Dermatol; 1989 Aug; 21(2 Pt 1):248-56. PubMed ID: 2527874
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Guess what! X-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle Syndrome).
    Krisp A; König A; Hoffmann R; Happle R
    Eur J Dermatol; 2001; 11(4):389-91. PubMed ID: 11458930
    [No Abstract]   [Full Text] [Related]  

  • 7. A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature.
    Rakheja D; Read CP; Hull D; Boriack RL; Timmons CF
    Pediatr Dev Pathol; 2007; 10(2):142-8. PubMed ID: 17378690
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).
    Lambrecht C; Wouters C; Van Esch H; Moens P; Casteels I; Morren MA
    Pediatr Dermatol; 2014; 31(4):493-6. PubMed ID: 24915996
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [X-chromosome dominant chondrodysplasia punctata (Happle syndrome). Lyonization of the eyelashes?].
    Wollina U; Vogel H
    Hautarzt; 1994 Jan; 45(1):42-4. PubMed ID: 8150617
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype.
    Offiah AC; Mansour S; Jeffrey I; Nash R; Whittock N; Pyper R; Bewley S; Clayton PT; Hall CM
    J Med Genet; 2003 Dec; 40(12):e129. PubMed ID: 14684697
    [No Abstract]   [Full Text] [Related]  

  • 11. X-linked dominant chondrodysplasia punctata: a peroxisomal disorder?
    Wilson CJ; Aftimos S
    Am J Med Genet; 1998 Jul; 78(3):300-2. PubMed ID: 9677071
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature].
    Omobono E; Goetsch W
    Minerva Pediatr; 1993 Mar; 45(3):117-21. PubMed ID: 8341225
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis.
    Kolb-Mäurer A; Grzeschik KH; Haas D; Bröcker EB; Hamm H
    Acta Derm Venereol; 2008; 88(1):47-51. PubMed ID: 18176751
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Conradi-Hünermann-Happle syndrome associated with severe hypocalcemia in a newborn.
    Dykman M; Voller LM; Boull C
    Pediatr Dermatol; 2022 Jul; 39(4):657-658. PubMed ID: 35355312
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Sex-linked chondrodysplasia punctata?
    Happle R; Matthiass HH; Macher E
    Clin Genet; 1977 Jan; 11(1):73-6. PubMed ID: 830452
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome).
    Hoang MP; Carder KR; Pandya AG; Bennett MJ
    Am J Dermatopathol; 2004 Feb; 26(1):53-8. PubMed ID: 14726822
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Radiological case of the month. Dominant X-linked chondrodysplasia punctata.
    Kozlowski K; Bates EH; Young LW; Wood BP
    Am J Dis Child; 1988 Nov; 142(11):1233. PubMed ID: 3177333
    [No Abstract]   [Full Text] [Related]  

  • 18. Lethal course of X-linked dominant chondrodysplasia punctata in a male newborn.
    De Raeve L; Song M; De Dobbeleer G; Spehl M; Van Regemorter N
    Dermatologica; 1989; 178(3):167-70. PubMed ID: 2566519
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Conradi-Hünermann-Happle syndrome.
    Hartman RD; Molho-Pessach V; Schaffer JV
    Dermatol Online J; 2010 Nov; 16(11):4. PubMed ID: 21163155
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hünermann syndrome.
    Clayton PT; Kalter DC; Atherton DJ; Besley GT; Broadhead DM
    J Inherit Metab Dis; 1989; 12 Suppl 2():358-60. PubMed ID: 2512444
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.